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Page 1
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Klabunde-Cherwon A, Kluger G, Muhle H, Pendziwiat M, Møller RS, Platzer K, Santos JL, Schröter J, Hoffmann GF, Kölker S, Syrbe S. Döring JH, et al. Among authors: moller rs. Neurol Genet. 2022 Sep 28;8(5):e200020. doi: 10.1212/NXG.0000000000200020. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36187725 Free PMC article.
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. Gardella E, et al. Among authors: moller rs. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13. Ann Neurol. 2016. PMID: 26677014
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Among authors: moller rs. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Free article. Review.
Reply.
Gardella E, Beniczky S, Møller RS, Becker F, Lemke JR, Syrbe S, Eiberg H, Bast T, Steinhoff B, Nürnberg P, Gellert P, Dahl HA, Weckhuysen S, Heron SE, Dibbens LM, Hjalgrim H, Lerche H, Weber YG. Gardella E, et al. Among authors: moller rs. Ann Neurol. 2016 Jul;80(1):168-9. doi: 10.1002/ana.24669. Epub 2016 May 10. Ann Neurol. 2016. PMID: 27098683 No abstract available.
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Rudolf G, et al. Among authors: moller rs. Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. Eur J Hum Genet. 2016. PMID: 27352968 Free PMC article.
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Møller RS, et al. Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4. Neurology. 2017. PMID: 28053010 Free PMC article.
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. von Stülpnagel C, et al. Among authors: moller rs. Eur J Paediatr Neurol. 2017 May;21(3):530-541. doi: 10.1016/j.ejpn.2017.01.001. Epub 2017 Jan 14. Eur J Paediatr Neurol. 2017. PMID: 28109652
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: moller rs. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group. von Spiczak S, et al. Among authors: moller rs. Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30. Neurology. 2017. PMID: 28667181 Free PMC article.
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. de Kovel CGF, et al. Among authors: moller rs. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. JAMA Neurol. 2017. PMID: 28806457 Free PMC article.
282 results